Gaucher Disease and Its Treatment Options

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Long Term Safety and Efficacy Data of Taliglucerase Alfa, a Plant Cell Expressed Recombinant Glucocerebrosidase, in Treatment Of Naïve Gaucher Disease Patients

(2012) Ari Zimran et al.   MOLECULAR GENETICS AND METABOLISM

Long Term Bone Marrow Responses, as Measured by Quantitative Chemical Shift Imaging (QCSI) MRI, Following Treatment With Taliglucerase Alfa in Patients with Type 1 Gaucher Disease

(2012) Laura van Dussen et al.   MOLECULAR GENETICS AND METABOLISM

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

(2011) A. Zimran et al.   BLOOD

How I treat Gaucher disease

(2011) A. Zimran   BLOOD

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future

(2011) Ozlem Goker-Alpan   MOLECULAR GENETICS AND METABOLISM

A reappraisal of Gaucher disease-diagnosis and disease management algorithms

(2010) Pramod K. Mistry et al.   AMERICAN JOURNAL OF HEMATOLOGY

Type 1 Gaucher Disease

(2010) Manisha Balwani et al.   ARCHIVES OF INTERNAL MEDICINE

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

(2010) A. Zimran et al.   BLOOD

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Safety, Tolerability, and Pharmacokinetics of Eliglustat Tartrate (Genz-112638) After Single Doses, Multiple Doses, and Food in Healthy Volunteers

(2010) M. Judith Peterschmitt et al.   JOURNAL OF CLINICAL PHARMACOLOGY

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recommendations for treating patients with Gaucher disease with emerging enzyme products

(2009) Timothy M. Cox   BLOOD CELLS MOLECULES AND DISEASES

Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

(2009) Carla E.M. Hollak et al.   BLOOD CELLS MOLECULES AND DISEASES

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Characterization of gene-activated human acid- -glucosidase: Crystal structure, glycan composition, and internalization into macrophages

(2009) B. Brumshtein et al.   GLYCOBIOLOGY

Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease

(2009) Ana Maria Martins et al.   JOURNAL OF PEDIATRICS

A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

(2009) David Aviezer et al.   PLoS One

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities

(2008) Mariëlle J. van Breemen et al.   CLINICA CHIMICA ACTA

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

(2008) M. Di Rocco et al.   HAEMATOLOGICA

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

(2008) T. M. Cox et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY

Gaucher disease: New developments in treatment and etiology

(2008) Ozgur Harmanci et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

(2007) J L Capablo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY